The 2p21 deletion syndrome: Characterization of the transcription content

The vast majority of small-deletion syndromes are caused by haploinsufficiency of one or several genes and are transmitted as dominant traits. We have previously identified a homozygous deletion of 179,311 bp on chromosome 2p21 as the cause of a unique syndrome, inherited in a recessive mode, consis...

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Veröffentlicht in:Genomics (San Diego, Calif.) Calif.), 2005-08, Vol.86 (2), p.195-211
Hauptverfasser: Parvari, Ruti, Gonen, Yael, Alshafee, Ismael, Buriakovsky, Sophia, Regev, Kfir, Hershkovitz, Eli
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container_issue 2
container_start_page 195
container_title Genomics (San Diego, Calif.)
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creator Parvari, Ruti
Gonen, Yael
Alshafee, Ismael
Buriakovsky, Sophia
Regev, Kfir
Hershkovitz, Eli
description The vast majority of small-deletion syndromes are caused by haploinsufficiency of one or several genes and are transmitted as dominant traits. We have previously identified a homozygous deletion of 179,311 bp on chromosome 2p21 as the cause of a unique syndrome, inherited in a recessive mode, consisting of cystinuria, neonatal seizures, hypotonia, severe somatic and developmental delay, facial dysmorphism, and reduced activity of all the respiratory chain enzymatic complexes that are encoded in the mitochondria. We now present the transcription content of this region: Multiple splicing variants of the genes protein phosphatase 1B (formerly 2C) magnesium-dependent, beta isoform ( PPM1B), SLC3A1, and KIAA0436 (approved gene symbol PREPL) were identified and their patterns of expression analyzed. The spliced variants are predicted to have additional functions compared to the known variants and their patterns of expression fit the tissues affected by the syndrome. The first exon of an additional gene ( C2orf34) is encoded in the deleted region and the gene is not expressed in the patients. In addition several transcripts with very short open reading frames are also encoded in the deletion. The identification of all transcripts encoded in the region deleted in the patients is the first step in the study of the genotype–phenotype correlation of the 2p21 patients.
doi_str_mv 10.1016/j.ygeno.2005.04.001
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We have previously identified a homozygous deletion of 179,311 bp on chromosome 2p21 as the cause of a unique syndrome, inherited in a recessive mode, consisting of cystinuria, neonatal seizures, hypotonia, severe somatic and developmental delay, facial dysmorphism, and reduced activity of all the respiratory chain enzymatic complexes that are encoded in the mitochondria. We now present the transcription content of this region: Multiple splicing variants of the genes protein phosphatase 1B (formerly 2C) magnesium-dependent, beta isoform ( PPM1B), SLC3A1, and KIAA0436 (approved gene symbol PREPL) were identified and their patterns of expression analyzed. The spliced variants are predicted to have additional functions compared to the known variants and their patterns of expression fit the tissues affected by the syndrome. The first exon of an additional gene ( C2orf34) is encoded in the deleted region and the gene is not expressed in the patients. In addition several transcripts with very short open reading frames are also encoded in the deletion. The identification of all transcripts encoded in the region deleted in the patients is the first step in the study of the genotype–phenotype correlation of the 2p21 patients.</abstract><cop>San Diego, CA</cop><pub>Elsevier Inc</pub><pmid>15913950</pmid><doi>10.1016/j.ygeno.2005.04.001</doi><tpages>17</tpages></addata></record>
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subjects 2p16 deletion
2p21 deletion
Alternative Splicing
Amino Acid Sequence
Biological and medical sciences
C2orf34
Chromosome aberrations
Chromosome Deletion
Chromosomes, Human, Pair 2
Classical genetics, quantitative genetics, hybrids
Cystinuria - genetics
DNA - metabolism
DNA Primers - chemistry
Electron Transport
Exons
Expressed Sequence Tags
Female
Fundamental and applied biological sciences. Psychology
Gene Deletion
Genes. Genome
Genetic Variation
Genetics of eukaryotes. Biological and molecular evolution
Genotype
Homozygote
Humans
Male
Medical genetics
Medical sciences
Methods, theories and miscellaneous
Mitochondria - metabolism
Models, Genetic
Molecular and cellular biology
Molecular genetics
Molecular Sequence Data
Open Reading Frames
Phenotype
Phosphoprotein Phosphatases - genetics
PPM1B
PREPL
Protein Isoforms
Protein Phosphatase 1
Reverse Transcriptase Polymerase Chain Reaction
RNA - metabolism
Sequence Homology, Amino Acid
SLC3A1
Splice variants
Syndrome
Tissue Distribution
Transcription
Transcription, Genetic
title The 2p21 deletion syndrome: Characterization of the transcription content
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